Abstract：
BACKGROUND: In 1969, Li-Fraumeni syndrome (LFS), which is a rare cancer predisposition syndrome, was reported for the first time. The main problem in LFS is the mutation in the TP53 gene, which is a crucial tumor suppressor gene in the cell cycle. A hereditary syndrome is inherited in an autosomal dominant pattern. There is a significant correlation between this syndrome and various cancers such as sarcoma, breast cancer, brain tumors, and different other types of malignancies. This study aimed to identify the possibility of LFS in cancer patients in the East Azarbaijan, Iran.
METHODS: In this experimental study, 45 children with cancer in the Northwest of Iran were investigated for LFS. DNA was extracted from the whole blood cells using the salting-out method. The region within the exons 5-8 of the TP53 gene has been replicated via Polymerase Chain Reaction (PCR) method. The PCR products were sent for Sanger sequencing, and finally, the data were analyzed by Chromas software.
RESULTS: In the studied probands, in 12 (26.67%) cases, polymorphisms in Exon 6 and Introns 6 and Intron 7 were identified, and no mutation was observed in exons 5-8 of the TP53 gene.
CONCLUSIONS: Our results show that there were no mutations in exons 5-8 of the TP53 gene as an indication of LFS possibility in these families. Further studies are needed to be done in a bigger population, and Next-Generation Sequencing (NGS) needs to be done to evaluate the whole genome of these patients to complete our data.
METHODS: In this experimental study, 45 children with cancer in the Northwest of Iran were investigated for LFS. DNA was extracted from the whole blood cells using the salting-out method. The region within the exons 5-8 of the TP53 gene has been replicated via Polymerase Chain Reaction (PCR) method. The PCR products were sent for Sanger sequencing, and finally, the data were analyzed by Chromas software.
RESULTS: In the studied probands, in 12 (26.67%) cases, polymorphisms in Exon 6 and Introns 6 and Intron 7 were identified, and no mutation was observed in exons 5-8 of the TP53 gene.
CONCLUSIONS: Our results show that there were no mutations in exons 5-8 of the TP53 gene as an indication of LFS possibility in these families. Further studies are needed to be done in a bigger population, and Next-Generation Sequencing (NGS) needs to be done to evaluate the whole genome of these patients to complete our data.
摘要：
背景：1969年，Li-Fraumeni综合征（LFS），这是一种罕见的癌症易感性综合症，这是第一次报道。LFS的主要问题是TP53基因的突变，这是细胞周期中至关重要的抑癌基因。遗传性综合征以常染色体显性遗传模式遗传。这种综合征与各种癌症如肉瘤之间存在显著的相关性，乳腺癌,脑肿瘤,和其他不同类型的恶性肿瘤。这项研究旨在确定东Azarbaijan癌症患者LFS的可能性，伊朗。
方法：在本实验研究中，伊朗西北部的45名癌症儿童接受了LFS调查。使用盐析法从全血细胞中提取DNA。TP53基因的外显子5-8内的区域已通过聚合酶链反应(PCR)方法复制。将PCR产物送去进行Sanger测序,最后，数据采用Chromas软件进行分析。
结果：在研究的先证者中，在12例(26.67%)中，鉴定了外显子6和内含子6和内含子7的多态性，在TP53基因的外显子5-8中未观察到突变。
结论：我们的结果表明，TP53基因的外显子5-8没有突变，这表明这些家族中LFS的可能性。需要在更大的人群中进行进一步的研究，需要进行下一代测序（NGS）来评估这些患者的整个基因组以完成我们的数据。
方法：在本实验研究中，伊朗西北部的45名癌症儿童接受了LFS调查。使用盐析法从全血细胞中提取DNA。TP53基因的外显子5-8内的区域已通过聚合酶链反应(PCR)方法复制。将PCR产物送去进行Sanger测序,最后，数据采用Chromas软件进行分析。
结果：在研究的先证者中，在12例(26.67%)中，鉴定了外显子6和内含子6和内含子7的多态性，在TP53基因的外显子5-8中未观察到突变。
结论：我们的结果表明，TP53基因的外显子5-8没有突变，这表明这些家族中LFS的可能性。需要在更大的人群中进行进一步的研究，需要进行下一代测序（NGS）来评估这些患者的整个基因组以完成我们的数据。
